Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219678 | SCV000271430 | pathogenic | Rare genetic deafness | 2019-09-13 | criteria provided, single submitter | clinical testing | The p.Leu316fs variant in OTOGL has been previously reported in two individuals with hearing loss by our laboratory who were compound heterozygous for a second pathogenic variant in OTOGL. This variant has been identified in 0.08% (9/10260) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 316 and leads to a premature termination codon 6 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the OTOGL gene is an established disease mechanism in autosomal recessive hearing loss. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive nonsyndromic hearing loss. ACMG/AMP Criteria applied: PVS1, PM3_Strong. |
Fulgent Genetics, |
RCV002500704 | SCV002809685 | pathogenic | Autosomal recessive nonsyndromic hearing loss 84B | 2021-07-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003238740 | SCV003936377 | likely pathogenic | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34733312, 31980526) |
Center for Computational Biology & Bioinformatics, |
RCV004567497 | SCV005049940 | uncertain significance | Meniere disease | 2024-06-03 | no assertion criteria provided | research |